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The occurrence of various non-ΔF508 CFTR gene mutations among Hungarian cystic fibrosis patients

✍ Scribed by Margit Nemeti; John P. Johnson; Zoltan Papp; Elaine Louie

Publisher
Springer
Year
1992
Tongue
English
Weight
227 KB
Volume
89
Category
Article
ISSN
0340-6717

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✦ Synopsis

Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To identify other common mutations in CF families from Hungary, 30 non-delta F508 CF chromosomes were analyzed for selected mutations in exon 11 (G551D, R553X, G542X), intron 4 (621 + 1G----T), intron 10 (1717-1G----A), exon 20 (W1282X), and in exon 21 (N1303K) of the CFTR gene. In 6 of the 30 non-delta F508 CF chromosomes the following mutations were detected: R553X, G542X, 1717-1G----A, W1282X, and N1303K. After analysis of the above eight mutations, 30% of CF chromosomes are as yet undefined and further analysis is planned.

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